Research Publications

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Leaf RK, Naik H, Jiang PY, Elmariah SB, Hodges P, Mead J, Trinidad J, Saberi B, Tran B, Valiante S, Mernick F, Leaf DE, Anderson KE, Dickey AK. Afamelanotide for Treatment of the Protoporphyrias: Impact on Quality of Life and Laboratory Parameters in a US Cohort. Life (Basel). 2024 May 28;14(6):689. doi: 10.3390/life14060689.

Balwani M, Keel S, Meissner P, Sonderup M, Stein P, Yasuda M. Case-based discussion of the acute hepatic porphyrias: Updates on pathogenesis, diagnosis and management. Liver Int. 2024 Apr 15. doi: 10.1111/liv.15924. Online ahead of print.

Dickey AK, Berkovich J, Leaf RK, Jiang PY, Lopez-Galmiche G, Rebeiz L, Wheeden K, Kochevar I, Savage W, Zhao S, Campisi E, Heo SY, Trueb J, LaRochelle EPM, Rogers J, Banks A, Chang JK. Observational pilot study of multi-wavelength wearable light dosimetry for erythropoietic protoporphyria. Int J Dermatol. 2024 Nov;63(11):1584-1591. doi: 10.1111/ijd.17166. Epub 2024 Apr 11. PMID: 38602089; PMCID: PMC11467130.

Erythropoietic protoporphyria (EPP) is a metabolic disorder characterized by the buildup of protoporphyrin, which is a light-sensitive substance. Individuals with EPP often experience severe pain from light exposure.

In this study, researchers developed a wearable light dosimeter both to improve quality of life in patients with EPP and to capture light exposure data for future EPP clinical trials. The dosimeters work by continuously capturing light doses of UVA, blue, and red wavelengths. The team tested the devices among five individuals with EPP, each wearing two light dosimeters—one as a watch, and one as a shirt clip—for three weeks.

Results show that wearable blue light dosimetry worn as a wristband is a promising method for measuring light exposure, as well as predicting and preventing symptoms in EPP.

Yasuda M, Lee S, Gan L, Bergonia HA, Desnick RJ, Phillips JD. Cimetidine Does Not Inhibit 5-Aminolevulinic Acid Synthase or Heme Oxygenase Activity: Implications for Treatment of Acute Intermittent Porphyria and Erythropoietic Protoporphyria. Biomolecules. 2023 Dec 24;14(1):27. doi: 10.3390/biom14010027.

Yasuda M, Keel S, Balwani M. RNA interference therapy in acute hepatic porphyrias. Blood. 2023 Nov 9;142(19):1589-1599. doi: 10.1182/blood.2022018662.

Levy C, Dickey AK, Wang B, Thapar M, Naik H, Keel SB, Saberi B, Beaven SW, Rudnick SR, Elmariah SB, Erwin AL, Goddu RJ, Hedstrom K, Leaf RK, Kazamel M, Mazepa M, Philpotts LL, Quigley J, Raef H, Ungar J, Anderson KE, Balwani M; Porphyrias Consortium of the Rare Diseases Clinical Network. Evidence based consensus guidelines for diagnosis and management of Protoporphyria-Related liver dysfunction in erythropoietic protoporphyria and X-Linked protoporphyria. Hepatology. 2023 Jul 27. doi: 10.1097/HEP.0000000000000546. Epub ahead of print. PMID: 37505211

Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are inherited, metabolic disorders characterized by the buildup of protoporphyrins (substances that bind metals to form complexes, such as the iron found in red blood cells). In addition to phototoxicity (severe pain during light exposure), patients with EPP and XLP often experience liver dysfunction. However, there is a lack of published information on the management of liver disease in these patients.

In this study, researchers established evidence-based guidelines for the diagnosis and management of liver disease in protoporphyrias. A group of 15 clinicians from the Porphyrias Consortium—with expertise in porphyrias and hepatology, hematology, and genetics—conducted a systematic literature review to develop new recommendations.

The resulting guidelines address important clinical topics in protoporphyrias and liver disease, including interventions and therapies based on severity. Authors note that these guidelines may not only improve patient care, but also inspire new collaborative research.

Leaf RK, Dickey AK. How I treat erythropoietic protoporphyria and X-linked protoporphyria. Blood. 2023 Jun 15;141(24):2921-2931. doi: 10.1182/blood.2022018688.

Applequist J, Burroughs C, Merkel PA, Rothenberg M, Trapnell B, Desnick R, Sahin M, Krischer J. Direct-to-Consumer Recruitment Methods via Traditional and Social Media to Aid in Research Accrual for Clinical Trials for Rare Diseases: Comparative Analysis Study. J Med Internet Res. 2023 Mar 14;25:e39262. doi: 10.2196/39262.

Wang B, Bonkovsky HL, Lim JK, Balwani M. AGA Clinical Practice Update on Diagnosis and Management of Acute Hepatic Porphyrias: Expert Review. Gastroenterology. 2023 Mar;164(3):484-491. doi: 10.1053/j.gastro.2022.11.034. Epub 2023 Jan 13. PMID: 36642627.

Bonkovsky HL, Rudnick SP, Ma CD, Overbey JR, Wang K, Faust D, Hallberg C, Hedstrom K, Naik H, Moghe A, Anderson KE. Ledipasvir/Sofosbuvir Is Effective as Sole Treatment of Porphyria Cutanea Tarda with Chronic Hepatitis C. Dig Dis Sci. 2023 Feb 22:1–9. doi: 10.1007/s10620-023-07859-8. Epub ahead of print. PMID: 36811718; PMCID: PMC9945827.

Kazamel M, Pischik E, Desnick RJ. Pain in acute hepatic porphyrias: Updates on pathophysiology and management. Front Neurol. 2022 Nov 21;13:1004125. doi: 10.3389/fneur.2022.1004125. PMID: 36479055; PMCID: PMC9719963.

Balwani M, Naik H, Overbey JR, Bonkovsky HL, Bissell DM, Wang B, Phillips JD, Desnick RJ, Anderson KE. A pilot study of oral iron therapy in erythropoietic protoporphyria and X-linked protoporphyria. Mol Genet Metab Rep. 2022 Nov 14;33:100939. doi: 10.1016/j.ymgmr.2022.100939. PMID: 36406817; PMCID: PMC9672425.

Ma CD, Bonkovsky HL. Elagolix is porphyrogenic and may induce porphyric attacks in patients with the acute hepatic porphyrias. Mol Genet Metab Rep. 2022 Sep 7;33:100915. doi: 10.1016/j.ymgmr.2022.100915. PMID: 36105850; PMCID: PMC9465260.

Ma CD, Bonkovsky HL. Eslicarbazepine acetate is porphyrogenic and should be used with caution in patients with the acute hepatic porphyrias. Front Pharmacol. 2022 Sep 6;13:953961. doi: 10.3389/fphar.2022.953961. PMID: 36147354; PMCID: PMC9485715.

Dickey AK, Naik H, Keel SB, Levy C, Beaven SW, Elmariah SB, Erwin AL, Goddu RJ, Hedstrom K, Leaf RK, Kazamel M, Mazepa M, Philpotts LL, Quigley J, Raef H, Rudnick SR, Saberi B, Thapar M, Ungar J, Wang B, Balwani M; Porphyrias Consortium of the Rare Diseases Clinical Research Network. Evidence-based consensus guidelines for the diagnosis and management of erythropoietic protoporphyria and X-linked protoporphyria. J Am Acad Dermatol. 2022 Aug 27:S0190-9622(22)02611-1. doi: 10.1016/j.jaad.2022.08.036. Epub ahead of print. PMID: 36041558.

Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare, inherited, metabolic disorders characterized by build-up of porphyrins. Porphyrins are substances that bind metals to form complexes, such as the iron found in red blood cells. The hallmark symptoms include phototoxicity (severe pain during light exposure) and photosensitivity (skin hyperreactivity to light). Due to the rarity of EPP and XLP, physicians often have limited expertise with these disorders, which can lead to delays in diagnosis. In this study, researchers developed evidence-based consensus guidelines for the diagnosis, monitoring, and management of EPP and XLP. First, the team conducted a systematic literature review. Next, they divided topics among subcommittees of experts to reach a consensus on guidelines. The new guidelines discuss biochemical and genetic testing for diagnosis, prevention of symptoms, management of acute phototoxicity, and pharmacologic (drug or medication) and non-pharmacologic treatment options. Researchers also discuss management, including the importance of ongoing monitoring, guidance on pregnancy and surgery, and the safety of other therapies. Authors note that these guidelines can aid in early diagnosis and management of these disorders.

Ma CD, Van Horn CG, Wan M, Bishop C, Bonkovsky HL. Assessment of porphyrogenicity of drugs and chemicals in selected hepatic cell culture models through a fluorescence-based screening assay. Pharmacol Res Perspect. 2022 Jun;10(3):e00951. doi: 10.1002/prp2.951. PMID: 35445802; PMCID: PMC9022196.

Acute hepatic porphyrias (AHPs)—including ALA dehydratase deficiency porphyria, acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria—are a subtype of porphyrias classified as having a hepatic (liver) origin. In patients with AHPs, some drugs and chemicals may trigger or exacerbate acute porphyric attacks. However, there is currently no standard model to assess and predict the likelihood of drugs and chemicals to induce these attacks. In this study, researchers aimed to develop a fluorescence-based in vitro assay for this purpose. The team studied four different hepatic cell culture models. They found that LMH cell cultures in multi-well plates are an inexpensive, robust, and simple system to predict the porphyrogenicity of compounds that may exacerbate the AHPs.

Farrell CP, Nicolas G, Desnick RJ, Parker CJ, Lamoril J, Gouya L, Karim Z, Tchernitchko D, Chan B, Puy H, Phillips JD. ABCB6 polymorphisms are not overly represented in patients with porphyria. Blood Adv.. 2022 Feb 8;6(3):760-766. doi: 10.1182/bloodadvances.2021005484. PMID: 34724702; PMCID: PMC8945301.

The porphyrias are a group of rare, inherited, metabolic disorders characterized by elevated porphyrin or porphyrin precursor levels that are caused by deficiencies in one of eight enzymes necessary for heme production. Recent studies have suggested that the genotype of the transporter protein ABCB6 contributes to the porphyria phenotype. To address this proposed link, researchers analyzed data from a large cohort of patients with acute hepatic porphyria and erythropoietic protoporphyria. Results showed that the ABCB6 genotype did not correlate with disease severity. Authors conclude that genotyping of ABCB6 in patients with acute hepatic porphyria and erythropoietic protoporphyria is not warranted.

Erwin AL, Balwani M. Porphyrias in the Age of Targeted Therapies. Diagnostics (Basel). 2021 Sep 29;11(10):1795. doi: 10.3390/diagnostics11101795.

Rondelli CM, Perfetto M, Danoff A, Bergonia H, Gillis S, O'Neill L, Jackson L, Nicolas G, Puy H, West R, Phillips JD, Yien YY. The ubiquitous mitochondrial protein unfoldase CLPX regulates erythroid heme synthesis by control of iron utilization and heme synthesis enzyme activation and turnover. J Biol Chem. 2021 Aug;297(2):100972. doi: 10.1016/j.jbc.2021.100972. Epub 2021 Jul 16.

Porphyrias are rare disorders caused by an abnormality in the heme production process. Heme enables our blood cells to carry oxygen and helps break down chemical compounds in the liver. Erythropoietic protoporphyria patients experience a build-up of protoporphyrin in the bone marrow, red blood cells, blood plasma, skin, and eventually liver. This buildup can cause extreme sensitivity to sunlight, liver damage, and other problems. The protein CLPX (caseinolytic mitochondrial matrix peptidase chaperone subunit X) promotes heme synthesis. Researchers seeking to better understand the ways CLPX regulates heme synthesis in red blood cells undertook genomic studies in yeast, zebrafish, and mouse models. They found that CLPX mutations may cause anemia and porphyria via dysregulation of ALAS, FECH, and PPOX activities, as well as of iron metabolism. They conclude that unraveling the complexities of CLPX function will be key for designing therapies for these rare diseases.

Wang B. Novel treatment options for acute hepatic porphyrias. Curr Opin Gastroenterol. 2021 May 1;37(3):194-199. doi: 10.1097/MOG.0000000000000734.

Wang B. The acute hepatic porphyrias. Transl Gastroenterol Hepatol. 2021 Apr 5;6:24. doi: 10.21037/tgh-2020-01. eCollection 2021.

Dickey AK, Quick C, Ducamp S, Zhu Z, Feng YA, Naik H, Balwani M, Anderson KE, Lin X, Phillips JE, Rebeiz L, Bonkovsky HL, McGuire BM, Wang B, Chasman DI, Smoller JW, Fleming MD, Christiani DC. Evidence in the UK Biobank for the underdiagnosis of erythropoietic protoporphyria. Genet Med. 2021 Jan;23(1):140-148. doi: 10.1038/s41436-020-00951-8. Epub 2020 Sep 2.

In this study of genetic data from 50,000 participants in the UK Biobank, researchers found that the number of individuals with the genetic pairing that causes EPP was seven times higher than the number of individuals who had been diagnosed. The prevalance of EPP in the data set turned out to be 1 in 17,000 people. See blog post.

Lahiji AP, Anderson KE, Chan A, Simon A, Desnick RJ, Ramanujam VMS. 5-Aminolevulinate dehydratase porphyria: Update on hepatic 5-aminolevulinic acid synthase induction and long-term response to hemin. Mol Genet Metab. 2020 Dec;131(4):418-423. doi: 10.1016/j.ymgme.2020.10.011. Epub 2020 Oct 26.

Rudnick S, Bonkovsky HL. Editorial: hepatitis C and porphyria cutanea tarda in 2020. Aliment Pharmacol Ther. 2020 Jun;51(12):1432-1434. doi: 10.1111/apt.15728.

Gouya L, Ventura P, Balwani M, Bissell DM, Rees DC, Stölzel U, Phillips JD, Kauppinen R, Langendonk JG, Desnick RJ, Deybach JC, Bonkovsky HL, Parker C, Naik H, Badminton M, Stein PE, Minder E, Windyga J, Bruha R, Cappellini MD, Sardh E, Harper P, Sandberg S, Aarsand AK, Andersen J, Alegre F, Ivanova A, Talbi N, Chan A, Querbes W, Ko J, Penz C, Liu S, Lin T, Simon A, Anderson KE. EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks. Hepatology. 2020 May;71(5):1546-1558. doi: 10.1002/hep.30936. Epub 2019 Nov 7.

Saberi B, Naik H, Overbey JR, Erwin AL, Anderson KE, Bissell DM, Bonkovsky HL, Phillips JD, Wang B, K Singal A, M McGuire B, Desnick RJ, Balwani M. Hepatocellular Carcinoma in Acute Hepatic Porphyrias: Results from the Longitudinal Study of the U.S. Porphyrias Consortium. Hepatology. 2021 May;73(5):1736-1746. doi: 10.1002/hep.31460. Epub 2020 Dec 11. PMID: 32681675.

The acute hepatic porphyrias (AHP) are a family of rare genetic diseases that present with acute attacks, nausea, and vomiting which can last for several days. These disorders can also have chronic symptoms and an increased risk for long-term manifestations. The risk for hepatocellular carcinoma (HCC) is increased in patients with acute hepatic porphyrias. In order to characterize the symptoms, outcomes, and frequency of HCC in patients with AHP in the United States, researchers undertook a multicenter, longitudinal study. Among 327 patients with AHP, 5 (1.5%) were diagnosed with HCC. Cirrhosis was not present in AHP patients with HCC, unlike what is typically seen with other chronic liver diseases. Study authors recommend that patients with AHP should be screened for HCC beginning at age 50.

Applequist J, Burroughs C, Ramirez A Jr, Merkel PA, Rothenberg ME, Trapnell B, Desnick RJ, Sahin M, Krischer JP. A novel approach to conducting clinical trials in the community setting: utilizing patient-driven platforms and social media to drive web-based patient recruitment. BMC Med Res Methodol. 2020 Mar 13;20(1):58. doi: 10.1186/s12874-020-00926-y.

Naik H, Overbey JR, Montgomery GH, Winkel G, Balwani M, Anderson KE, Bissell DM, Bonkovsky HL, Phillips JD, Wang B, McGuire B, Keel S, Levy C, Erwin A, Desnick RJ. Evaluating the Patient-Reported Outcomes Measurement Information System scales in acute intermittent porphyria. Genet Med. 2020 Mar;22(3):590-597. doi: 10.1038/s41436-019-0683-y. Epub 2019 Nov 6.

Anderson KE. Acute hepatic porphyrias: Current diagnosis & management. Mol Genet Metab. 2019 Nov;128(3):219-227. doi: 10.1016/j.ymgme.2019.07.002. Epub 2019 Jul 5.

Chen B, Wang M, Gan L, Zhang B, Desnick RJ, Yasuda M. Characterization of the hepatic transcriptome following phenobarbital induction in mice with AIP. Mol Genet Metab. 2019 Nov;128(3):382-390. doi: 10.1016/j.ymgme.2018.12.010. Epub 2019 Jan 6.

Erwin AL, Desnick RJ. Congenital erythropoietic porphyria: Recent advances. Mol Genet Metab. 2019 Nov;128(3):288-297. doi: 10.1016/j.ymgme.2018.12.008. Epub 2018 Dec 27.

Balwani M. Erythropoietic Protoporphyria and X-Linked Protoporphyria: pathophysiology, genetics, clinical manifestations, and management. Mol Genet Metab. 2019 Nov;128(3):298-303. doi: 10.1016/j.ymgme.2019.01.020. Epub 2019 Jan 24.

Phillips JD. Heme biosynthesis and the porphyrias. Mol Genet Metab. 2019 Nov;128(3):164-177. doi: 10.1016/j.ymgme.2019.04.008. Epub 2019 Apr 22.

Chen B, Whatley S, Badminton M, Aarsand AK, Anderson KE, Bissell DM, Bonkovsky HL, Cappellini MD, Floderus Y, Friesema ECH, Gouya L, Harper P, Kauppinen R, Loskove Y, Martásek P, Phillips JD, Puy H, Sandberg S, Schmitt C, To-Figueras J, Weiss Y, Yasuda M, Deybach JC, Desnick RJ. International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias. Genet Med. 2019 Nov;21(11):2605-2613. doi: 10.1038/s41436-019-0537-7. Epub 2019 May 10.

Yasuda M, Desnick RJ. Murine models of the human porphyrias: Contributions toward understanding disease pathogenesis and the development of new therapies. Mol Genet Metab. 2019 Nov;128(3):332-341. doi: 10.1016/j.ymgme.2019.01.007. Epub 2019 Jan 18.

Bonkovsky HL, Dixon N, Rudnick S. Pathogenesis and clinical features of the acute hepatic porphyrias (AHPs). Mol Genet Metab. 2019 Nov;128(3):213-218. doi: 10.1016/j.ymgme.2019.03.002. Epub 2019 Mar 6.

Dixon N, Li T, Marion B, Faust D, Dozier S, Molina A, Rudnick S, Bonkovsky HL. Pilot study of mitochondrial bioenergetics in subjects with acute porphyrias. Mol Genet Metab. 2019 Nov;128(3):228-235. doi: 10.1016/j.ymgme.2019.05.010. Epub 2019 May 20.

Weiss Y, Chen B, Yasuda M, Nazarenko I, Anderson KE, Desnick RJ. Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations. Mol Genet Metab. 2019 Nov;128(3):363-366. doi: 10.1016/j.ymgme.2018.11.013. Epub 2018 Nov 28.

Naik H, Shenbagam S, Go AM, Balwani M. Psychosocial issues in erythropoietic protoporphyria - the perspective of parents, children, and young adults: A qualitative study. Mol Genet Metab. 2019 Nov;128(3):314-319. doi: 10.1016/j.ymgme.2019.01.023. Epub 2019 Jan 26.

Yasuda M, Chen B, Desnick RJ. Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes. Mol Genet Metab. 2019 Nov;128(3):320-331. doi: 10.1016/j.ymgme.2018.11.012. Epub 2018 Nov 30.

Parker CJ, Desnick RJ, Bissel MD, Bloomer JR, Singal A, Gouya L, Puy H, Anderson KE, Balwani M, Phillips JD. Results of a pilot study of isoniazid in patients with erythropoietic protoporphyria. Mol Genet Metab. 2019 Nov;128(3):309-313. doi: 10.1016/j.ymgme.2019.07.017. Epub 2019 Jul 31.

Pulgar VM, Yasuda M, Gan L, Desnick RJ, Bonkovsky HL. Sex differences in vascular reactivity in mesenteric arteries from a mouse model of acute intermittent porphyria. Mol Genet Metab. 2019 Nov;128(3):376-381. doi: 10.1016/j.ymgme.2019.01.005. Epub 2019 Jan 7.

Phillips J, Farrell C, Wang Y, Singal AK, Anderson K, Balwani M, Bissell M, Bonkovsky H, Seay T, Paw B, Desnick R, Bloomer J. Strong correlation of ferrochelatase enzymatic activity with Mitoferrin-1 mRNA in lymphoblasts of patients with protoporphyria. Mol Genet Metab. 2019 Nov;128(3):391-395. doi: 10.1016/j.ymgme.2018.10.005. Epub 2018 Oct 22.

Yasuda M, Gan L, Chen B, Yu C, Zhang J, Gama-Sosa MA, Pollak DD, Berger S, Phillips JD, Edelmann W, Desnick RJ. Homozygous hydroxymethylbilane synthase knock-in mice provide pathogenic insights into the severe neurological impairments present in human homozygous dominant acute intermittent porphyria. Hum Mol Genet. 2019 Jun 1;28(11):1755-1767. doi: 10.1093/hmg/ddz003.

Moghe A, Ramanujam VMS, Phillips JD, Desnick RJ, Anderson KE. Harderoporphyria: Case of lifelong photosensitivity associated with compound heterozygous coproporphyrinogen oxidase (CPOX) mutations. Mol Genet Metab Rep. 2019 Feb 19;19:100457. doi: 10.1016/j.ymgmr.2019.100457. eCollection 2019 Jun.

Chen B, Solis-Villa C, Erwin AL, Balwani M, Nazarenko I, Phillips JD, Desnick RJ, Yasuda M. Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria. J Inherit Metab Dis. 2019 Jan;42(1):186-194. doi: 10.1002/jimd.12040.

Maitra D, Bragazzi Cunha J, Elenbaas JS, Bonkovsky HL, Shavit JA, Omary MB. Porphyrin-Induced Protein Oxidation and Aggregation as a Mechanism of Porphyria-Associated Cell Injury. Cell Mol Gastroenterol Hepatol. 2019;8(4):535-548. doi: 10.1016/j.jcmgh.2019.06.006. Epub 2019 Jun 21.

Yien YY, Shi J, Chen C, Cheung JTM, Grillo AS, Shrestha R, Li L, Zhang X, Kafina MD, Kingsley PD, King MJ, Ablain J, Li H, Zon LI, Palis J, Burke MD, Bauer DE, Orkin SH, Koehler CM, Phillips JD, Kaplan J, Ward DM, Lodish HF, Paw BH. FAM210B is an erythropoietin target and regulates erythroid heme synthesis by controlling mitochondrial iron import and ferrochelatase activity. J Biol Chem. 2018 Dec 21;293(51):19797-19811. doi: 10.1074/jbc.RA118.002742. Epub 2018 Oct 26.

Wang B, Rudnick S, Cengia B, Bonkovsky HL. Acute Hepatic Porphyrias: Review and Recent Progress. Hepatol Commun. 2018 Dec 20;3(2):193-206. doi: 10.1002/hep4.1297. eCollection 2019 Feb.

Salameh H, Sarairah H, Rizwan M, Kuo YF, Anderson KE, Singal AK. Relapse of porphyria cutanea tarda after treatment with phlebotomy or 4-aminoquinoline antimalarials: a meta-analysis. Br J Dermatol. 2018 Dec;179(6):1351-1357. doi: 10.1111/bjd.16741. Epub 2018 Jul 26.

Lala SM, Naik H, Balwani M. Diagnostic Delay in Erythropoietic Protoporphyria. J Pediatr. 2018 Nov;202:320-323.e2. doi: 10.1016/j.jpeds.2018.06.001. Epub 2018 Jul 2.

Bung N, Roy A, Chen B, Das D, Pradhan M, Yasuda M, New MI, Desnick RJ, Bulusu G. Human hydroxymethylbilane synthase: Molecular dynamics of the pyrrole chain elongation identifies step-specific residues that cause AIP. Proc Natl Acad Sci U S A. 2018 Apr 24;115(17):E4071-E4080. doi: 10.1073/pnas.1719267115. Epub 2018 Apr 9.

Balwani M, Wang B, Anderson KE, Bloomer JR, Bissell DM, Bonkovsky HL, Phillips JD, Desnick RJ; Porphyrias Consortium of the Rare Diseases Clinical Research Network. Acute hepatic porphyrias: Recommendations for evaluation and long-term management. Hepatology. 2017 Oct;66(4):1314-1322. doi: 10.1002/hep.29313. Epub 2017 Sep 4.

Yien YY, Ducamp S, van der Vorm LN, Kardon JR, Manceau H, Kannengiesser C, Bergonia HA, Kafina MD, Karim Z, Gouya L, Baker TA, Puy H, Phillips JD, Nicolas G, Paw BH. Mutation in human CLPX elevates levels of δ-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria. Proc Natl Acad Sci U S A. 2017 Sep 19;114(38):E8045-E8052. doi: 10.1073/pnas.1700632114. Epub 2017 Sep 5.

Balwani M, Naik H, Anderson KE, Bissell DM, Bloomer J, Bonkovsky HL, Phillips JD, Overbey JR, Wang B, Singal AK, Liu LU, Desnick RJ. Clinical, Biochemical, and Genetic Characterization of North American Patients With Erythropoietic Protoporphyria and X-linked Protoporphyria. JAMA Dermatol. 2017 Aug 1;153(8):789-796. doi: 10.1001/jamadermatol.2017.1557.

Singal AK, Venkata KVR, Jampana S, Islam FU, Anderson KE. Hepatitis C Treatment in Patients With Porphyria Cutanea Tarda. Am J Med Sci. 2017 Jun;353(6):523-528. doi: 10.1016/j.amjms.2017.03.007. Epub 2017 Mar 8.

Lane AM, McKay JT, Bonkovsky HL. Advances in the management of erythropoietic protoporphyria - role of afamelanotide. Appl Clin Genet. 2016 Dec 12;9:179-189. doi: 10.2147/TACG.S122030. eCollection 2016.

Balwani M, Singh P, Seth A, Debnath EM, Naik H, Doheny D, Chen B, Yasuda M, Desnick RJ. Acute Intermittent Porphyria in children: A case report and review of the literature. Mol Genet Metab. 2016 Dec;119(4):295-299. doi: 10.1016/j.ymgme.2016.10.005. Epub 2016 Oct 15.

Chen B, Solis-Villa C, Hakenberg J, Qiao W, Srinivasan RR, Yasuda M, Balwani M, Doheny D, Peter I, Chen R, Desnick RJ. Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease. Hum Mutat. 2016 Nov;37(11):1215-1222. doi: 10.1002/humu.23067. Epub 2016 Sep 5.

Naik H, Stoecker M, Sanderson SC, Balwani M, Desnick RJ. Experiences and concerns of patients with recurrent attacks of acute hepatic porphyria: A qualitative study. Mol Genet Metab. 2016 Nov;119(3):278-283. doi: 10.1016/j.ymgme.2016.08.006. Epub 2016 Aug 24.

Farrell CP, Overbey JR, Naik H, Nance D, McLaren GD, McLaren CE, Zhou L, Desnick RJ, Parker CJ, Phillips JD. The D519G Polymorphism of Glyceronephosphate O-Acyltransferase Is a Risk Factor for Familial Porphyria Cutanea Tarda. PLoS One. 2016 Sep 23;11(9):e0163322. doi: 10.1371/journal.pone.0163322. eCollection 2016.

Piel RB 3rd, Shiferaw MT, Vashisht AA, Marcero JR, Praissman JL, Phillips JD, Wohlschlegel JA, Medlock AE. A Novel Role for Progesterone Receptor Membrane Component 1 (PGRMC1): A Partner and Regulator of Ferrochelatase. Biochemistry. 2016 Sep 20;55(37):5204-17. doi: 10.1021/acs.biochem.6b00756. Epub 2016 Sep 9.

Merkel PA, Manion M, Gopal-Srivastava R, Groft S, Jinnah HA, Robertson D, Krischer JP; Rare Diseases Clinical Research Network. The partnership of patient advocacy groups and clinical investigators in the rare diseases clinical research network. Orphanet J Rare Dis. 2016 May 18;11(1):66. doi: 10.1186/s13023-016-0445-8.

French JB, Bonacini M, Ghabril M, Foureau D, Bonkovsky HL. Hepatotoxicity Associated with the Use of Anti-TNF-α Agents. Drug Saf. 2016 Mar;39(3):199-208. doi: 10.1007/s40264-015-0366-9.

Sachar M, Anderson KE, Ma X. Protoporphyrin IX: the Good, the Bad, and the Ugly. J Pharmacol Exp Ther. 2016 Feb;356(2):267-75. doi: 10.1124/jpet.115.228130. Epub 2015 Nov 20.

Brancaleoni V, Balwani M, Granata F, Graziadei G, Missineo P, Fiorentino V, Fustinoni S, Cappellini MD, Naik H, Desnick RJ, Di Pierro E. X-chromosomal inactivation directly influences the phenotypic manifestation of X-linked protoporphyria. Clin Genet. 2016 Jan;89(1):20-6. doi: 10.1111/cge.12562. Epub 2015 Feb 17.

Gou EW, Balwani M, Bissell DM, Bloomer JR, Bonkovsky HL, Desnick RJ, Naik H, Phillips JD, Singal AK, Wang B, Keel S, Anderson KE. Pitfalls in Erythrocyte Protoporphyrin Measurement for Diagnosis and Monitoring of Protoporphyrias. Clin Chem. 2015 Dec;61(12):1453-6. doi: 10.1373/clinchem.2015.245456. Epub 2015 Oct 19.

Wang G, Bonkovsky HL, de Lemos A, Burczynski FJ. Recent insights into the biological functions of liver fatty acid binding protein 1. J Lipid Res. 2015 Dec;56(12):2238-47. doi: 10.1194/jlr.R056705. Epub 2015 Oct 6.

O'Brien TR, Pfeiffer RM, Paquin A, Lang Kuhs KA, Chen S, Bonkovsky HL, Edlin BR, Howell CD, Kirk GD, Kuniholm MH, Morgan TR, Strickler HD, Thomas DL, Prokunina-Olsson L. Comparison of functional variants in IFNL4 and IFNL3 for association with HCV clearance. J Hepatol. 2015 Nov;63(5):1103-10. doi: 10.1016/j.jhep.2015.06.035. Epub 2015 Jul 15.

Bossi K, Lee J, Schmeltzer P, Holburton E, Groseclose G, Besur S, Hwang S, Bonkovsky HL. Homeostasis of iron and hepcidin in erythropoietic protoporphyria. Eur J Clin Invest. 2015 Oct;45(10):1032-41. doi: 10.1111/eci.12503. Epub 2015 Sep 2.

Medlock AE, Shiferaw MT, Marcero JR, Vashisht AA, Wohlschlegel JA, Phillips JD, Dailey HA. Identification of the Mitochondrial Heme Metabolism Complex. PLoS One. 2015 Aug 19;10(8):e0135896. doi: 10.1371/journal.pone.0135896. eCollection 2015.

Bergonia HA, Franklin MR, Kushner JP, Phillips JD. A method for determining δ-aminolevulinic acid synthase activity in homogenized cells and tissues. Clin Biochem. 2015 Aug;48(12):788-95. doi: 10.1016/j.clinbiochem.2015.04.023. Epub 2015 May 8.

Farrell CP, Parker CJ, Phillips JD. Exome sequencing for molecular characterization of non-HFE hereditary hemochromatosis. Blood Cells Mol Dis. 2015 Aug;55(2):101-3. doi: 10.1016/j.bcmd.2015.04.002. Epub 2015 May 1.

Egan DN, Yang Z, Phillips J, Abkowitz JL. Inducing iron deficiency improves erythropoiesis and photosensitivity in congenital erythropoietic porphyria. Blood. 2015 Jul 9;126(2):257-61. doi: 10.1182/blood-2014-07-584664. Epub 2015 May 13.

Langendonk JG, Balwani M, Anderson KE, et al. Afamelanotide for Erythropoietic Protoporphyria. N Engl J Med. Jul 2 2015;373(1):48-59. PMID: 26132941.

Ramanujam VS, Anderson KE. Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias. Curr Protoc Hum Genet. 2015 Jul 1;86:17.20.1-17.20.26. doi: 10.1002/0471142905.hg1720s86.

Yasuda M, Erwin AL, Liu LU, Balwani M, Chen B, Kadirvel S, Gan L, Fiel MI, Gordon RE, Yu C, Clavero S, Arvelakis A, Naik H, Martin LD, Phillips JD, Anderson KE, Sadagoparamanujam VM, Florman SS, Desnick RJ. Liver Transplantation for Acute Intermittent Porphyria: Biochemical and Pathologic Studies of the Explanted Liver. Mol Med. 2015 Jun 5;21(1):487-95. doi: 10.2119/molmed.2015.00099.

Butler DF, Ginn KF, Daniel JF, Bloomer JR, Kats A, Shreve N, Myers GD. Bone marrow transplant for X-linked protoporphyria with severe hepatic fibrosis. Pediatr Transplant. 2015 Jun;19(4):E106-10. doi: 10.1111/petr.12472. Epub 2015 Apr 9.

Bissell DM, Wang B. Acute Hepatic Porphyria. J Clin Transl Hepatol. 2015 Mar;3(1):17-26. doi: 10.14218/JCTH.2014.00039. Epub 2015 Mar 15.

Bissell DM, Lai JC, Meister RK, Blanc PD. Role of delta-aminolevulinic acid in the symptoms of acute porphyria. Am J Med. 2015 Mar;128(3):313-7. doi: 10.1016/j.amjmed.2014.10.026. Epub 2014 Nov 8.

Dailey HA, Gerdes S, Dailey TA, Burch JS, Phillips JD. Noncanonical coproporphyrin-dependent bacterial heme biosynthesis pathway that does not use protoporphyrin. Proc Natl Acad Sci U S A. 2015 Feb 17;112(7):2210-5. doi: 10.1073/pnas.1416285112. Epub 2015 Feb 2.

Bonkovsky HL, Maddukuri VC, Yazici C, Anderson KE, Bissell DM, Bloomer JR, Phillips JD, Naik H, Peter I, Baillargeon G, Bossi K, Gandolfo L, Light C, Bishop D, Desnick RJ. Acute porphyrias in the USA: features of 108 subjects from porphyrias consortium. Am J Med. 2014 Dec;127(12):1233-41. doi: 10.1016/j.amjmed.2014.06.036. Epub 2014 Jul 10.

Besur S, Hou W, Schmeltzer P, Bonkovsky HL. Clinically important features of porphyrin and heme metabolism and the porphyrias. Metabolites. 2014 Nov 3;4(4):977-1006. doi: 10.3390/metabo4040977.

Yien YY, Robledo RF, Schultz IJ, Takahashi-Makise N, Gwynn B, Bauer DE, Dass A, Yi G, Li L, Hildick-Smith GJ, Cooney JD, Pierce EL, Mohler K, Dailey TA, Miyata N, Kingsley PD, Garone C, Hattangadi SM, Huang H, Chen W, Keenan EM, Shah DI, Schlaeger TM, DiMauro S, Orkin SH, Cantor AB, Palis J, Koehler CM, Lodish HF, Kaplan J, Ward DM, Dailey HA, Phillips JD, Peters LL, Paw BH. TMEM14C is required for erythroid mitochondrial heme metabolism. J Clin Invest. 2014 Oct;124(10):4294-304. doi: 10.1172/JCI76979. Epub 2014 Aug 26.

Singal AK, Parker C, Bowden C, Thapar M, Liu L, McGuire BM. Liver transplantation in the management of porphyria. Hepatology. 2014 Sep;60(3):1082-9. doi: 10.1002/hep.27086. Epub 2014 Jul 29.

Yasuda M, Gan L, Chen B, Kadirvel S, Yu C, Phillips JD, New MI, Liebow A, Fitzgerald K, Querbes W, Desnick RJ. RNAi-mediated silencing of hepatic Alas1 effectively prevents and treats the induced acute attacks in acute intermittent porphyria mice. Proc Natl Acad Sci U S A. 2014 May 27;111(21):7777-82. doi: 10.1073/pnas.1406228111. Epub 2014 May 12.

Liu LU, Phillips J, Bonkovsky H. Hepatoerythropoietic Porphyria. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993. 2013 Oct 31 [updated 2022 Dec 22].

Clavero S, Ahuja Y, Bishop DF, Kwait B, Haskins ME, Giger U, Desnick RJ. Diagnosis of feline acute intermittent porphyria presenting with erythrodontia requires molecular analyses. Vet J. 2013 Dec;198(3):720-2. doi: 10.1016/j.tvjl.2013.10.008. Epub 2013 Oct 10.

Erwin A, Balwani M, Desnick RJ. Congenital Erythropoietic Porphyria. GeneReviews(R). 2013 Sep 12 [updated 2021 Apr 15]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 24027798.

Larion S, Caballes FR, Hwang SI, Lee JG, Rossman WE, Parsons J, Steuerwald N, Li T, Maddukuri V, Groseclose G, Finkielstein CV, Bonkovsky HL. Circadian rhythms in acute intermittent porphyria--a pilot study. Eur J Clin Invest. 2013 Jul;43(7):727-39. doi: 10.1111/eci.12102. Epub 2013 May 8.

Wang B, Bissell D, Lai J, Cimino T, Porphyrias Consortium. A Combined Clinical Index for the Diagnosis of Acute Porphyria. Paper presented at: Annual Assembly of the Swiss Society of Clinical Chemistry & International Congress of Porphyrins and Porphyrias. Paper presented at: Annual Assembly of the Swiss Society of Clinical Chemistry & International Congress of Porphyrins and Porphyrias; May 16-18, 2013; Lucerne, Switzerland.

Maddukuri V, Yazici C, Anderson K, et al. Acute intermittent porphyria [AIP] in the United States: features of the first 82 cases enrolled in the longitudinal study of the porphyria consortium [PC]. Paper presented at: Annual Assembly of the Swiss Society of Clinical Chemistry & International Congress of Porphyrins and Porphyrias. May 16-18, 2013; Lucerne, Switzerland.

Ludtke A, Yasuda M, Gan L, et al. Acute Intermittent Porphyria: Identification of 19 Novel Hydroxymethylbilane Synthase Mutations and Functional Characterization of Four Novel Missense Mutations. Paper presented at: Annual Assembly of the Swiss Society of Clinical Chemistry & International Congress of Porphyrins and Porphyrias. May 16-18, 2013; Lucerne, Switzerland.

Larion S, Caballes F, Hwang S, et al. Circadian rhythms in acute intermittent porphyria—a pilot study. Paper presented at: Annual Assembly of the Swiss Society of Clinical Chemistry & International Congress of Porphyrins and Porphyrias. May 16-18, 2013; Lucerne, Switzerland.

Balwani M, Naik H, Peter I, et al. Erythropoietic Protoporphyria and X-Linked Protoporphyria in the United States: Results from the Longitudinal Study of the NIH/RDCRN Porphyrias Consortium. Paper presented at: Annual Assembly of the Swiss Society of Clinical Chemistry & International Congress of Porphyrins and Porphyrias. May 16-18, 2013; Lucerne, Switzerland.

Naik H, Balwani M, Doheny D, Liu L, Desnick R. Experience with a Pilot Skype Internet Support Group for Symptomatic Patients with Acute Intermittent Porphyria. Paper presented at: Annual Assembly of the Swiss Society of Clinical Chemistry & International Congress of Porphyrins and Porphyrias. May 16-18, 2013; Lucerne, Switzerland.

Gou E, Singh A, Pierson K, Wilkinson G, Anderson K. Frequency of Porphyria Testing in a National Health Care Database. Paper presented at: Annual Assembly of the Swiss Society of Clinical Chemistry & International Congress of Porphyrins and Porphyrias. May 16-18, 2013; Lucerne, Switzerland.

Yazici C, Maddukuri V, Anderson K, et al. Hereditary coproporphyria [HCP] and variegate porphyria [VP] in the United States: Initial results from the longitudinal study of the porphyria consortium [PC]. Paper presented at: Annual Assembly of the Swiss Society of Clinical Chemistry & International Congress of Porphyrins and Porphyrias. May 16-18, 2013; Lucerne, Switzerland.

Singal A, Jampana S, Kormos-Hallberg C, Anderson K. Low-dose hydroxychloroquine to treat or prevent relapse of porphyria cutanea tarda during hepatitis C treatment. Paper presented at: Annual Assembly of the Swiss Society of Clinical Chemistry & International Congress of Porphyrins and Porphyrias. May 16-18, 2013; Lucerne, Switzerland.

Mittal S, Yasuda M, Desnick R, Anderson K. Metabolic Analysis in Transgenic Mouse Models of Acute Intermittent Porphyria (AIP). Paper presented at: Annual Assembly of the Swiss Society of Clinical Chemistry & International Congress of Porphyrins and Porphyrias. May 16-18, 2013; Lucerne, Switzerland.

Balwani M, Bishop D, Nazarenko I, et al. Mutation analysis of 155 North American Patients with Erythropoietic Protoporphyria reveals novel Ferrochelatase Mutations and a high prevalence of X-Linked Protoporphyria due to previous and novel 5-Aminolevulinate Synthase 2 mutations. Paper presented at: Annual Assembly of the Swiss Society of Clinical Chemistry & International Congress of Porphyrins and Porphyrias. May 16-18, 2013; Lucerne, Switzerland.

Phillips J, Warby C, Bergonia H, Marcero J, Parker C, Franklin M. Porphyria studies in Cyp1A2-/- and wild type mice suggest that heme regulation of ALA-synthase transcription and mitochondrial membrane translocation can be separated based on heme supply-and-demand. Paper presented at: Annual Assembly of the Swiss Society of Clinical Chemistry & International Congress of Porphyrins and Porphyrias. May 16-18, 2013; Lucerne, Switzerland.

Singal A, Gou E, Albuerne M, Kormos-Hallberg C, Anderson K. Relapse of porphyria cutanea tarda after achieving remission with phlebotomy or low dose hydroxychloroquine. Paper presented at: Annual Assembly of the Swiss Society of Clinical Chemistry & International Congress of Porphyrins and Porphyrias. May 16-18, 2013; Lucerne, Switzerland.

Bishop D, Tchaikovskii V, Nazarenko I, Desnick R. Synthase Gain-of-Function Mutations Causing X-Linked Protoporphyria. Paper presented at: Annual Assembly of the Swiss Society of Clinical Chemistry & International Congress of Porphyrins and Porphyrias. May 16-18, 2013; Lucerne, Switzerland.

Balwani M, Doheny D, Bishop DF, Nazarenko I, Yasuda M, Dailey HA, Anderson KE, Bissell DM, Bloomer J, Bonkovsky HL, Phillips JD, Liu L, Desnick RJ; Porphyrias Consortium of the National Institutes of Health Rare Diseases Clinical Research Network. Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria. Mol Med. 2013 Apr 30;19(1):26-35. doi: 10.2119/molmed.2012.00340.

Bonkovsky HL, Hou W, Steuerwald N, et al. Heme status affects human hepatic messenger RNA and microRNA expression. World J Gastroenterol. Mar 14 2013;19(10):1593-1601. PMID: 23538684, PMCID: PMC3602476.

Bishop DF, Tchaikovskii V, Nazarenko I, Desnick RJ. Molecular expression and characterization of erythroid-specific 5-aminolevulinate synthase gain-of-function mutations causing X-linked protoporphyria. Mol Med. 2013 Mar 5;19(1):18-25. doi: 10.2119/molmed.2013.00003.

Bonkovsky HL. Risk factors for porphyria cutanea tarda -the iron/HFE connection. Liver Int. Jan 2013;33(1):162. PMID: 23121614.

Ludtke A, Yasuda M, Lin G, et al. Acute Intermittent Porphyria: Identification of 23 Novel Hydroxymethylbilane Synthase Mutations and Functional Characterization of Six Novel Missense Mutations. Paper presented at: ACMG Annual Clinical Genetics Meeting, Phoenix, AZ2013.

Mittal S, Anderson KE. Congenital erythropoietic porphyria. In: Rose BD, ed. UpToDate. Waltham, MA: UpToDate . 2013

Ludtke A, Yasuda M, Balwani M, et al. First US Orthotopic Liver Transplant for Intractable Acute Intermittent Porphyria. Paper presented at: The American Society of Human Genetics 63rd Annual Meeting. Boston, MA2013.

Liu LU, Phillips J, Bonkovsky H. Porphyria Cutanea Tarda, Type II. In: Pagon RA, Adam MP, Bird TD, et al., eds. GeneReviews(R). Seattle WA: University of Washington, Seattle. 1993. PMID: 23741761.

Bonkovsky HL, Guo J-T, Hou W, Li T, Narang T, Thapar M. Porphyrin and Heme Metabolism and the Porphyrias. Comprehensive Physiology: John Wiley & Sons, Inc. 2013:365-401.

Gou E, Anderson K. The Porphyrias. In: Hamblin M, Huang Y, eds. Handbook of Photomedicine. Boca Raton, FL: Taylor and Francis. 2013

Anderson KE, Singal AK. Variegate Porphyria. GeneReviews. Seattle WA: University of Washington, Seattle. 1993

Balwani M, Bloomer J, Desnick R. X-Linked Protoporphyria. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, eds. GeneReviews. Seattle WA: University of Washington, Seattle. 1993. PMID: 23409301.

Bissell DM, Wang B, Cimino T, Lai J. Hereditary Coproporphyria. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993. 2012 Dec 13 [updated 2022 May 19].

Singal AK, Kormos-Hallberg C, Lee C, Sadagoparamanujam VM, Grady JJ, Freeman DH Jr, Anderson KE. Low-dose hydroxychloroquine is as effective as phlebotomy in treatment of patients with porphyria cutanea tarda. Clin Gastroenterol Hepatol. 2012 Dec;10(12):1402-9. doi: 10.1016/j.cgh.2012.08.038. Epub 2012 Sep 14.

Balwani M, Desnick RJ. The porphyrias: advances in diagnosis and treatment. Blood. 2012 Nov 29;120(23):4496-504. doi: 10.1182/blood-2012-05-423186. Epub 2012 Jul 12.

Singh A, Pierson K, Wilkinson G, Anderson K. Porphyrias: prevalence and frequency of testing in a national health care database. Paper presented at: Annual Meeting of the American Association for the Study of Liver Disease (AASLD). November 9-13, 2012; Boston, MA.

Ryan Caballes F, Sendi H, Bonkovsky HL. Hepatitis C, porphyria cutanea tarda and liver iron: an update. Liver Int. 2012 Jul;32(6):880-93. doi: 10.1111/j.1478-3231.2012.02794.x. Epub 2012 Apr 17.

Desnick RJ. The Porphyrias: Cardinal Signs and Diagnosis/Treatment. Paper presented at: American College of Medical Genetics Annual Clinical Genetics Meeting. March 31, 2012; Charlotte, NC.

Wang L, He F, Bu J, Zhen Y, Liu X, Du W, Dong J, Cooney JD, Dubey SK, Shi Y, Gong B, Li J, McBride PF, Jia Y, Lu F, Soltis KA, Lin Y, Namburi P, Liang C, Sundaresan P, Paw BH, Li W, Li DY, Phillips JD, Yang Z. ABCB6 mutations cause ocular coloboma. Am J Hum Genet. 2012 Jan 13;90(1):40-8. doi: 10.1016/j.ajhg.2011.11.026. Epub 2012 Jan 5.

Lourenco CM, Lee C, Anderson KE. Disorders of heme biosynthesis In: J-M S, Van den Berghe G, Walter JH, eds. In: J-M S, Van den Berghe G, Walter JH, eds. Inborn Metabolic Diseases: Diagnosis and Treatment. 5th ed. Berlin: Springer- Verlag. 2012:519-532.

Balwani M, Bloomer J, Desnick R. Erythropoietic Protoporphyria, Autosomal Recessive. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993. 2012 Sep 27 [updated 2017 Sep 7].

Phillips JD. Side chain modification during heme biosynthesis. Handbook of Porphyrin Science, Vol 16-In: Kadish KM, Smith KM, Guilard R, eds. Handbook of Porphyrin Science. Vol 16: World Scientific Publishing Company. 2012:283- 337.

Anderson KE. The porphyrias. In: Goldman L, Schafer AI, eds. Goldman's Cecil Medicine. 24th ed. Philadelphia: Elsevier Saunders. 2012:1363-1371.

Balwani M, Desnick RJ. The porphyrias: advances in diagnosis and treatment. Hematology Am Soc Hematol Educ Program. 2012;2012:19-27. doi: 10.1182/asheducation-2012.1.19.

Phillips JD, Kushner JP, Bergonia HA, Franklin MR. Uroporphyria in the Cyp1a2-/- mouse. Blood Cells Mol Dis. 2011 Dec 15;47(4):249-54. doi: 10.1016/j.bcmd.2011.07.006. Epub 2011 Aug 30.

Hwang SI, Lee YY, Park JO, Norton HJ, Clemens E, Schrum LW, Bonkovsky HL. Effects of a single dose of oral iron on hepcidin concentrations in human urine and serum analyzed by a robust LC-MS/MS method. Clin Chim Acta. 2011 Nov 20;412(23-24):2241-7. doi: 10.1016/j.cca.2011.08.014. Epub 2011 Aug 16.

Dailey HA, Septer AN, Daugherty L, Thames D, Gerdes S, Stabb EV, Dunn AK, Dailey TA, Phillips JD. The Escherichia coli protein YfeX functions as a porphyrinogen oxidase, not a heme dechelatase. mBio. 2011 Nov 8;2(6):e00248-11. doi: 10.1128/mBio.00248-11. Print 2011.

Desnick RJ. Overview of RDCRN and Porphyrias Consortium Activities. Paper presented at: AASLD Annual Meeting. November 6, 2011; San Francisco, CA.

Wang B. PTF Experience from the Trainee Perspective. Paper presented at: AASLD Annual Meeting. November 6, 2011; San Francisco, CA.

Anderson K. The cutaneous porphyrias. Paper presented at: AASLD Annual Meeting. November 6, 2011; San Francisco, CA.

Huang Z, Chen K, Xu T, Zhang J, Li Y, Li W, Agarwal AK, Clark AM, Phillips JD, Pan X. Sampangine inhibits heme biosynthesis in both yeast and human. Eukaryot Cell. 2011 Nov;10(11):1536-44. doi: 10.1128/EC.05170-11. Epub 2011 Sep 9.

Doheny D, Nazarenko I, Balwani M, Liu L, Naik H, Anderson K, Bissell DM, Bloomer JR, Bonkovsky HL, Kushner JP, Phillips J, Bishop D, Desnick RJ. Erythropoietic Protoporphyrias: Frequency of Mutations in the Ferrochelatase Gene Causing Autosomal Recessive Erythropoietic Protoporphyria and Mutations in the 5’-Aminolevulinate Synthase 2 Gene Causing X-Linked Protoporphyria (Abstract #1338T). Paper presented at: 12th International Congress of Human Genetics/61st Annual Meeting of The American Society of Human Genetics. October 14, 2011; Montreal, Canada.

Bishop D, Tchaikovskii V, Nazarenko I, Balwani M, Doheny D, Desnick RJ. Expression and characterization of the ALAS2 carboxy-terminal gain-of-function mutations causing X-linked protoporphyria (Abstract #1157F). Paper presented at: 12th International Congress of Human Genetics/61st Annual Meeting of The American Society of Human Genetics. October 14, 2011; Montreal, Canada.

To-Figueras J, Phillips JD, Gonzalez-López JM, Badenas C, Madrigal I, González-Romarís EM, Ramos C, Aguirre JM, Herrero C. Hepatoerythropoietic porphyria due to a novel mutation in the uroporphyrinogen decarboxylase gene. Br J Dermatol. 2011 Sep;165(3):499-505. doi: 10.1111/j.1365-2133.2011.10453.x. Epub 2011 Aug 18.

Zhang J, Yasuda M, Desnick RJ, Balwani M, Bishop D, Yu C. A LC-MS/MS method for the specific, sensitive, and simultaneous quantification of 5-aminolevulinic acid and porphobilinogen. J Chromatogr B Analyt Technol Biomed Life Sci. 2011 Aug 15;879(24):2389-96. doi: 10.1016/j.jchromb.2011.06.034. Epub 2011 Jul 6.

Tian Q, Li T, Hou W, Zheng J, Schrum LW, Bonkovsky HL. Lon peptidase 1 (LONP1)-dependent breakdown of mitochondrial 5-aminolevulinic acid synthase protein by heme in human liver cells. J Biol Chem. 2011 Jul 29;286(30):26424-30. doi: 10.1074/jbc.M110.215772. Epub 2011 Jun 9.

Wang Y, Langer NB, Shaw GC, Yang G, Li L, Kaplan J, Paw BH, Bloomer JR. Abnormal mitoferrin-1 expression in patients with erythropoietic protoporphyria. Exp Hematol. 2011 Jul;39(7):784-94. doi: 10.1016/j.exphem.2011.05.003. Epub 2011 May 11.

Boynton TO, Gerdes S, Craven SH, Neidle EL, Phillips JD, Dailey HA. Discovery of a gene involved in a third bacterial protoporphyrinogen oxidase activity through comparative genomic analysis and functional complementation. Appl Environ Microbiol. 2011 Jul;77(14):4795-801. doi: 10.1128/AEM.00171-11. Epub 2011 Jun 3.

Balwani M, Grace ME, Desnick RJ. Gaucher disease: when molecular testing and clinical presentation disagree -the novel c.1226A>G(p.N370S)--RecNcil allele. J Inherit Metab Dis. 2011 Jun;34(3):789-93. doi: 10.1007/s10545-011-9307-7. Epub 2011 Mar 23.

Lakner AM, Bonkovsky HL, Schrum LW. microRNAs: fad or future of liver disease. World J Gastroenterol. May 28 2011;17(20):2536-2542. PMCID: PMC3103811.

Troadec MB, Warner D, Wallace J, Thomas K, Spangrude GJ, Phillips J, Khalimonchuk O, Paw BH, Ward DM, Kaplan J. Targeted deletion of the mouse Mitoferrin1 gene: from anemia to protoporphyria. Blood. 2011 May 19;117(20):5494-502. doi: 10.1182/blood-2010-11-319483. Epub 2011 Feb 10.

Lorenzo FRt, Phillips JD, Nussenzveig R, Lingam B, Koul PA, Schrier SL, Prchal JT. Molecular basis of two novel mutations found in type I methemoglobinemia. Blood Cells Mol Dis. Apr 15 2011;46(4):277-281. PMCID: PMC3075332.

Wickliffe JK, Abdel-Rahman SZ, Lee C, Kormos-Hallberg C, Sood G, Rondelli CM, Grady JJ, Desnick RJ, Anderson KE. CYP1A2*1F and GSTM1 alleles are associated with susceptibility to porphyria cutanea tarda. Mol Med. 2011 Mar-Apr;17(3-4):241-7. doi: 10.2119/molmed.2010.00130. Epub 2010 Oct 15. Anderson K. CYP1A2*1F and GSTM1 Alleles Are Associated with Susceptibility to Porphyria Cutanea Tarda. Poster presented at: International Porphyrins & Porphyrias Meeting; April 2011; Cardiff, Wales.

Anderson K. CYP1A2*1F and GSTM1 Alleles Are Associated with Susceptibility to Porphyria Cutanea Tarda. Poster presented at: International Porphyrins & Porphyrias Meeting; April 2011; Cardiff, Wales.

Li T, Bonkovsky HL, Guo JT. Structural analysis of heme proteins: implications for design and prediction. BMC Struct Biol. 2011 Mar 3;11:13. doi: 10.1186/1472-6807-11-13.

Machaczka M, Klimkowska M, Regenthal S, Hägglund H. Gaucher disease with foamy transformed macrophages and erythrophagocytic activity. J Inherit Metab Dis. 2011 Feb;34(1):233-5. doi: 10.1007/s10545-010-9241-0. Epub 2010 Nov 27.

Hasanoglu A, Balwani M, Kasapkara CS, Ezgü FS, Okur I, Tümer L, Cakmak A, Nazarenko I, Yu C, Clavero S, Bishop DF, Desnick RJ. Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R. J Inherit Metab Dis. 2011 Feb;34(1):225-31. doi: 10.1007/s10545-010-9237-9. Epub 2010 Nov 20.

Bishop DF, Clavero S, Mohandas N, Desnick RJ. Congenital erythropoietic porphyria: characterization of murine models of the severe common (C73R/C73R) and later-onset genotypes. Mol Med. 2011;17(7-8):748-56. doi: 10.2119/molmed.2010.00258. Epub 2011 Feb 25.

Mittal S, Anderson KE. Erythropoietic porphyria. In: Rose BD, ed. UpToDate. Waltham, MA: UpToDate. 2011

Tian Q, Hou W, Steuerwald NM, Schrum LW, Bonkovsky HL. Heme markedly up-regulates RNA- binding motif protein 24 gene expression in human hepatocytes. Hepatology-Abstract #895 presented at the Annual Meeting of the American Association for the Study of Liver Diseases. 2011;54(S1):780A.

[Abstract #895 presented at the Annual Meeting of the American Association for the Study of Liver Diseases]

Tian Q, Hou W, Zheng J, Schrum LW, Bonkovsky HL. LONP1-dependent breakdown of mitochondrial 5-aminolevulinicacid synthase protein by heme in human liver cells. Abstract #904 presented at the Annual Meeting of the American Association for the Study of Liver Diseases. Hepatology. 2011;54(S1):785A.

[Abstract #904 presented at the Annual Meeting of the American Association for the Study of Liver Diseases]

Hwang SI, Lee YY, Park JO, Norton HJ, Clemens E, Schrum LW, Bonkovsky HL. The measurement of hepcidin from human urine and serum to study effects of a single dose of oral iron by an optimized LC-MS/MS method. Hepatology. 2011;54(S1):931A. Abstract #1204 presented at Annual Meeting of the American Association for the Study of Liver Diseases.

[Abstract #1204 presented at Annual Meeting of the American Association for the Study of Liver Diseases]

Anderson K, Lee C, Balwani M, Desnick R. The porphyrias. In: Kliegman R, Stanton B, St. Geme J, Schor N, Behrman R, eds. Nelson Textbook of Pediatrics. 19 ed. Philadelphia, PA: Elsevier. 2011

Phillips JD, Anderson K. The Porphyrias. In: Lichtman MA, Kaushansky K, Kipps TJ, Prchal JT, Levi MM, eds. Williams Manual of Hematology. 8th ed: McGraw-Hill Professional. 2011

Hou W, Tian Q, Lu QL, Schrum LW, Bonkovsky HL. Zinc protoporphyrin, a novel endogenous HCV NS3-4A protease inhibitor, displays anti-viral activity. Presidential Poster of Distinction, presented at Annual Meeting of the American Association for the Study of Liver Diseases]. Hepatology. 2011;54(S1):128A-359A.

[Abstract #926 Presidential Poster of Distinction, presented at Annual Meeting of the American Association for the Study of Liver Diseases]

Clavero S, Bishop DF, Giger U, Haskins ME, Desnick RJ. Feline congenital erythropoietic porphyria: two homozygous UROS missense mutations cause the enzyme deficiency and porphyrin accumulation. Mol Med. 2010 Sep-Oct;16(9-10):381-8. doi: 10.2119/molmed.2010.00038. Epub 2010 May 12.

Gunn GB, Anderson KE, Patel AJ, Gallegos J, Hallberg CK, Sood G, Hatch SS, Sanguineti G. Severe radiation therapy-related soft tissue toxicity in a patient with porphyria cutanea tarda: a literature review. Head Neck. 2010 Aug;32(8):1112-7. doi: 10.1002/hed.21161.

Cantatore-Francis JL, Cohen-Pfeffer J, Balwani M, Kahn P, Lazarus HM, Desnick RJ, Schaffer JV. Hepatoerythropoietic porphyria misdiagnosed as child abuse: cutaneous, arthritic, and hematologic manifestations in siblings with a novel UROD mutation. Arch Dermatol. 2010 May;146(5):529-33. doi: 10.1001/archdermatol.2010.89.

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Jalil S, Grady JJ, Lee C, Anderson KE. Associations among behavior-related susceptibility factors in porphyria cutanea tarda. Clin Gastroenterol Hepatol. Mar 2010;8(3):297-302, 302 e291. PMCID: PMC2834813

Crockett DK, Kushnir MM, Phillips JD, Rockwood AL. Time-of-flight mass spectrometry analysis of the ferroportin-hepcidin binding domain complex for accurate mass confirmation of bioactive hepcidin 25. Clin Chim Acta. 2010 Mar;411(5-6):453-5. doi: 10.1016/j.cca.2009.11.031. Epub 2009 Dec 3.

Clavero S, Bishop DF, Haskins ME, Giger U, Kauppinen R, Desnick RJ. Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations. Hum Mol Genet. 2010 Feb 15;19(4):584-96. doi: 10.1093/hmg/ddp525. Epub 2009 Nov 24.

Bishop DF, Schneider-Yin X, Clavero S, Yoo HW, Minder EI, Desnick RJ. Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts. Blood. 2010 Feb 4;115(5):1062-9. doi: 10.1182/blood-2009-04-218016. Epub 2009 Nov 24.

Yasuda M, Bishop DF, Fowkes M, Cheng SH, Gan L, Desnick RJ. AAV8-mediated gene therapy prevents induced biochemical attacks of acute intermittent porphyria and improves neuromotor function. Mol Ther. 2010 Jan;18(1):17-22. doi: 10.1038/mt.2009.250. Epub 2009 Oct 27.

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Badenas C, To-Figueras J, Phillips JD, Warby CA, Muñoz C, Herrero C. Identification and characterization of novel uroporphyrinogen decarboxylase gene mutations in a large series of porphyria cutanea tarda patients and relatives. Clin Genet. 2009 Apr;75(4):346-53. doi: 10.1111/j.1399-0004.2009.01153.x.

Anderson K, Sood G. Acute intermittent porphyria. Best Practice. London, UK: BMJ Publishing Group. 2008

Sood G, Anderson K. Porphyria Cutanea Tarda. Best Practice. London, UK: BMJ Publishing Group. 2008

Sood G, Anderson K. Porphyrias. In: Crowther M, Ginsberg J, Schunemann H, Meyer R, Lottenberg R, eds. Evidence-Based Hematology. United Kingdom: Blackwell Publishing Ltd. 2008:229-237.

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